Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264600 | SCV002543362 | uncertain significance | Autoinflammatory syndrome | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003095932 | SCV003493862 | uncertain significance | Vasculitis due to ADA2 deficiency | 2022-07-02 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 405 of the ADA2 protein (p.Ile405Leu). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with systemic autoinflammatory disease (PMID: 30783801). This variant is present in population databases (no rsID available, gnomAD 0.3%). |